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SATB2-associated syndrome due to a pathogenic variant

ORPHA:576283 · Etiological subtype · Subtype of disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(26)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of visionHP:0000504
  • Absent speechHP:0001344
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Brain imaging abnormalityHP:0410263
  • Broad thumbHP:0011304
  • Cleft palateHP:0000175
  • Deeply set eyeHP:0000490
  • Delayed myelinationHP:0012448
  • DroolingHP:0002307
  • Facial asymmetryHP:0000324
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Happy demeanorHP:0040082
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • OsteopeniaHP:0000938
  • Postnatal growth retardationHP:0008897
  • Severe intellectual disabilityHP:0010864
  • Sleep disturbanceHP:0002360
  • Smooth philtrumHP:0000319
  • Thin upper lip vermilionHP:0000219

Occasional (29-5%)(18)

  • Abnormality of globe locationHP:0100886
  • Abnormality of the handHP:0001155
  • Abnormality of the skinHP:0000951
  • Bifid uvulaHP:0000193
  • Celiac diseaseHP:0002608
  • Clinodactyly of the 5th fingerHP:0004209
  • DysphagiaHP:0002015
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • High palateHP:0000218
  • Joint hypermobilityHP:0001382
  • LaryngomalaciaHP:0001601
  • Lower limb asymmetryHP:0100559
  • Poor speechHP:0002465
  • SeizureHP:0001250
  • Short footHP:0001773
  • StrabismusHP:0000486
  • Typical absence seizureHP:0011147